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Three Cases of Molecularly Confirmed Knobloch Syndrome Ophthalmic Genetics ISSN: 1381-6810 (Print) 1744-5094 (Online) Journal homepage: https://www.tandfonline.com/loi/iopg20 Three cases of molecularly confirmed Knobloch syndrome Irina Balikova, Nuri Serdal Sanak, Depasse Fanny, Guillaume Smits, Julie Soblet, Elfride de Baere & Monique Cordonnier To cite this article: Irina Balikova, Nuri Serdal Sanak, Depasse Fanny, Guillaume Smits, Julie Soblet, Elfride de Baere & Monique Cordonnier (2020) Three cases of molecularly confirmed Knobloch syndrome, Ophthalmic Genetics, 41:1, 83-87, DOI: 10.1080/13816810.2020.1737948 To link to this article: https://doi.org/10.1080/13816810.2020.1737948 © 2020 The Author(s). Published with license by Taylor & Francis Group, LLC. Published online: 17 Mar 2020. Submit your article to this journal Article views: 269 View related articles View Crossmark data Full Terms & Conditions of access and use can be found at https://www.tandfonline.com/action/journalInformation?journalCode=iopg20 OPHTHALMIC GENETICS 2020, VOL. 41, NO. 1, 83–87 https://doi.org/10.1080/13816810.2020.1737948 CASE REPORT Three cases of molecularly confirmed Knobloch syndrome Irina Balikovaa,b, Nuri Serdal Sanakc, Depasse Fannyd, Guillaume Smitse, Julie Soblete, Elfride de Baeref, and Monique Cordonnierc aDepartment of Ophthalmology, University Hospital Leuven, Leuven, Belgium; bDepartment of Ophthalmology, Children Hospital Queen Fabiola, Brussels, Belgium; cDepartment of Ophthalmology, University Hospital Erasme, Brussels, Belgium; dOphthalmology Service, University Hospital Charleroi, Charleroi, Belgium; eDepartment of Genetics, University Hospital Erasme, Brussels, Belgium; fCenter for Medical Genetics, University Hospital Ghent, Ghent, Belgium ABSTRACT ARTICLE HISTORY Background: Knobloch syndrome (OMIM 267750) is a rare autosomal recessive disorder due to genetic Received October 21, 2019 defects in the COL18A1 gene. The triad of high myopia, occipital defect, vitreoretinal degeneration has Revised February 16, 2020 been described as pathognomonic for this condition. Patients with Knobloch syndrome have also Accepted February 28, 2020 extraocular problems as brain and kidney malformations. High genetic and phenotypic variation has KEYWORDS been reported in the affected patients. Knobloch syndrome; Materials and Methods: Here we provide detailed clinical description of 3 individuals with Knobloch macular coloboma; syndrome. Ocular examination and fundus imaging have been performed. Detailed information about COL18A1; encephalocele; systemic conditions has been provided. myopia; skin healing; Results: Mutations in COL18A1 were identified in all three patients. Patient 1 had congenital hip nephronophthisis; dislocation and patient 2 had renal atrophy, cardiac insufficiency and difficult skin healing. vitreoretinopathy; retinal Conclusions: With this report we add to the clinical and genetic knowledge of this rare condition. detachment; lens subluxation Introduction Material and methods Knobloch syndrome (OMIM 267750) is a rare autosomal Three patients were seen in two University Hospitals in recessive genetic disorder. It was initially described by Belgium. The study is performed according to the tenets of Knobloch and Layer in 1971 in a big family with 5 the Declaration of Helsinki. affected family members. The patients were highly myo- Each patient underwent full ophthalmic examination with pic, had vitreoretinal degeneration, retinal detachment and age-appropriate methods. occipital encephalocele (1). Mutations in COL18A1 cause Blood samples were taken from the patients after proper Knobloch syndrome (2). The gene is located on the long informed consent. DNA was extracted following standard arm of chromosome 21. In the eye, Col18a1 is shown to procedures. Patient 1 and 2 – Sanger sequencing was per- play a role in the anchoring of the vitreal fibrils to the formed in the COL18A1 gene. inner limiting membrane providing an explanation for the In Patient 3, clinical exome capture (3,638 genes) was myopia and the retinal detachment. Mice deficient in achieved using the SeqCap EZ Choice XL (NimbleGen, Col18a1 have also delayed the regression of the hyaloid Madison, WI). Samples were subsequently sequenced in vasculature during ocular development (3). The triad of a paired-end 125 bp run on a HiSeq 1500 instrument high myopia, retinal detachment and occipital defect is (Illumina, San Diego, CA, USA). Bioinformatics pipeline was pathognomonic for Knobloch syndrome. The symptoms launched by BRIGHTcore (BRIGHTcore, Brussels, Belgium) can vary in severity and time of onset. Patients with and filtering of the variants was accomplished using Knobloch have also extraocular symptoms. Skull deformi- Highlander (http://sites.uclouvain.be/highlander). The results ties range from meningoencephalocele to isolated scalp were further confirmed by Sanger sequencing. defect in the occipital region. Brain anomalies including migration anomalies, developmental delay and epilepsy Patient 1 have been described (4,5). Other organ anomalies such as unilateral duplex kidney with bifid ureter, congenital The patient was a girl born from non-consanguineous par- hydronephrosis and hypermobile joints have been shown ents. She was referred for ophthalmological examination at in patients with this syndrome (6). the age of 2 years because of reduced vision. She bumped into Here we describe three patients with Knobloch syndrome. objects and had problems of seeing in the distance. The diagnosis was confirmed molecularly in all three indivi- Cycloplegic refraction revealed high myopia: −14.00/-3.50 at duals. These cases help to further understand the genotypic 140° and −17.00/-1.00 at 90° for the right and left eye, and phenotypic spectrum of this condition. respectively. CONTACT Irina Balikova [email protected] Department of Ophthalmology, University Hospital Leuven, Leuven, Belgium © 2020 The Author(s). Published with license by Taylor & Francis Group, LLC. This is an Open Access article distributed under the terms of the Creative Commons Attribution-NonCommercial License (http://creativecommons.org/licenses/by-nc/4.0/), which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited. 84 I. BALIKOVA ET AL. Visual acuity using Key Picture Test was 0.9logmar and The patient had a congenital occipital mass of 4 cm less than 1.3logmar at the right and left eye with the optical with serosanguineous secretion. Transfontanel echography correction. She had horizontal nystagmus. Her eye examina- diagnosed occipital meningoencephalocele (Figure 2a). tion showed normal anterior segments – no cataract or lens Surgical correction was performed at the first day of life. subluxation was present. The eye fundus showed thin retina The patient had a normal postnatal neuromotor with visible choroidal vessels. A retinal defect was present in development. the right macular region (Figure 1a). On the left side, a less The genetic analysis identified two mutations within the well-demarcated atrophic region was present. The ERG COL18A1. The patient is a compound heterozygote for showed the presence of scotopic and photopic responses, but c.2960_2969dup (p.Gly991Argfs*96) and c.3514_3515del (p. severely reduced amplitudes and delayed latencies. Leu1172Valfs*72). a b c Figure 1. Macular defects. Ocular fundus showing different degrees of macular defect: (a) Irregular macular region in the right fundus and atrophic lesion in the left fundus in Patient 1 (b) Punched out pseudocoloboma in Patient 2 (c) Pigment epithelium alterations on the right side and macular atrophy on the left side in Patient 3. OPHTHALMIC GENETICS 85 a b c Figure 2. Occipital defects. (a) Ultrasound image, an arrow indicating the communication between the occipital defect and the meningocele cavity in Patient 1 (b) Cerebral CT showing the occipital bone defect in Patient 2 (c) Pigmented lesion in the occipital area in Patient 3. Patient 2 was fibrillary. The retina had pigment epithelium alterations in both macular regions with generalised thinning and visible The second patient was a 46y old man born from a consan- choroidal vessels (Figure 1c). She developed retinal detach- guineous marriage. He complained from a loss of vision and ment macula off at age of 6y in the left eye. photophobia. He had low vision since childhood. At examina- In the occipital region, the patient had an area of a darker tion – the visual acuities were 1,3 logmar on the right side and coloured skin as an only anomaly (Figure 2c). Mild dys- Counting Fingers on the left side. Automatic refraction morphic features were present with bilateral epicanthus and showed +2.75/+1.25 at 147 and +2/+1.5 at 74 and the axial upslanting palpebral fissures. She had congenital hip subluxa- length was 29.17 mm and 28.81 mm for the right and left eye, tion. The patient had delayed language development and had respectively. The patient had horizontal nystagmus. The ante- learning difficulties. The motor development was normal. rior segment showed hypoplastic iris crypts, iris transillumi- The axial length of the right eye was 26.89 mm. The nation, correctopia on the left side and bilateral lens measurements of the left eye failed due to bad fixation. dislocation. The left lens became luxated at age of 13y and Genetic analysis identified a homozygous mutation in the right at 43y. The ocular fundus revealed bilateral large COL18A1 c.4492 del G (p. Glu1498Lys*fs). Parental testing macular pseudocolobomas. The retina was extremely
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